Noninherited Risk Factors and Congenital Cardiovascular Defects: Current Knowledge: A Scientific Statement From the American Heart Association Council on Cardiovascular Disease in the Young

By K. Jenkins, Adolfo Correa, J. Feinstein, L. Botto, Amy E. Britt, S. Daniels, M. Elixson, C. Warnes, C. Webb. Circulation, 2007

818 citations recorded by the source corpus.

Prevention of congenital cardiovascular defects has been hampered by a lack of information about modifiable risk factors for abnormalities in cardiac development. Over the past decade, there have been major breakthroughs in the understanding of inherited causes of congenital heart disease, including the identification of specific genetic abnormalities for some types of malformations. Although relatively less information has been available on noninherited modifiable factors that may have an adverse effect on the fetal heart, there is a growing body of epidemiological literature on this topic. This statement summarizes the currently available literature on potential fetal exposures that might alter risk for cardiovascular defects. Information is summarized for periconceptional multivitamin or folic acid intake, which may reduce the risk of cardiac disease in the fetus, and for additional types of potential exposures that may increase the risk, including maternal illnesses, maternal therapeutic and nontherapeutic drug exposures, environmental exposures, and paternal exposures. Information is highlighted regarding definitive risk factors such as maternal rubella; phenylketonuria; pregestational diabetes; exposure to thalidomide, vitamin A cogeners, or retinoids; and indomethacin tocolysis. Caveats regarding interpretation of possible exposure-outcome relationships from case-control studies are given because this type of study has provided most of the available information. Guidelines for prospective parents that could reduce the likelihood that their child will have a major cardiac malformation are given. Issues related to pregnancy monitoring are discussed. Knowledge gaps and future sources of new information on risk factors are described.

Subfields: Obstetrics and Gynecology, Pediatrics, Perinatology and Child Health, Rheumatology

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Citations in the corpus

• Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. (2007, methodology): “a) Autosomal dominant b) 25% to 70% of cases result from de novo mutation c) More likely if pulmonary valve is dysplastic d) Also associated with hypertrophic cardiomyopathy (right and/or left ventricle) e) Noncardiac phenotype features (1) Male or female (2) Short stature (3) Broad or webbed neck (”
• The developmental genetics of congenital heart disease (2008, background): “, epidemiological data also point to environmental influence”
• The changing epidemiology of congenital heart disease (2011, background): “Maternal exposure to herbicides, maternal age >40 years, and paternal age >35 years have been investigated as potential risk factors for congenital heart disease, but too little information is available to make a determination about their contribution to risk”